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applied health science > genomics > Flashcards

genomics Flashcards

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Biology 101 flashcards
1
Q

what is genetics

A

the study of heredity

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2
Q

what is genomics

A

structural and functional mapping of genomes and their evolution

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3
Q

what is a gene

A

basic physical and functional unit of heredity

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4
Q

4 things genomics allows us to do

A

functional studies
tracking viral infections/variants
tracking gene transfer
tracking drug resistance

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5
Q

how is dna stored within cell

A

chromatin- condenses into chromosomes

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6
Q

name the 4 bases

A

a= adenine
g=guanine
t= thymine
c= cytosine

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7
Q

what are 3 nucleotides called

A

codon

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8
Q

what is exon

A

protein coding region of dna strand

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9
Q

what is intron

A

non-coding region of dna strand

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10
Q

name 4 structural proteins

A

1.collagen
2.elastin
3.keratin
4.desmoglein

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11
Q

name 4 functional proteins

A

1.enzymes
2.ion channels
3. neurotransmitter receptors
4.antibodies

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12
Q

name 2 ways proteins are formed

A

alternative gene splicing
post-traditional modification

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13
Q

what is a pseudogene

A

non-functional gene / damaged

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14
Q

what is a genotype

A

someone’s complete set of genetic material including the various variant genes that they carry

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15
Q

give 2 overall reasons for variation

A
  1. sexual reproduction
  2. random mutations
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16
Q

give 2 physical types of variant

A
  1. single nucleotide variants
    2.INDELS- insertions and deletions
17
Q

name 2 types of single nucleotide variants

A
  1. missense mutation- single nucleotide been substituted for a different one
    2.nonsense mutation- single nucleotide subbed and changed cause pseudogene
18
Q

give 3 structural variations

A

translocations- chromosomal abnormalities
inversions- reversal of genetic coding
large deletions- >1000 basepairs

19
Q

what is bioinformatics

A

analysis, storage, annotation and retrieval of genomic data

20
Q

what is an example of genetic testing

A

blood tests

21
Q

3 uses of bioinformatics in healthcare

A

identify individual risk factors
promote early diagnosis
inform strategies for conventional treatments

applied health science (6 decks)

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